摘要
目的 探讨有镶边空泡的远端肌病 (DMRV)的临床和病理特点。方法 分析我院1 990～ 2 0 0 1年 9例DMRV患者的临床表现和肌活检组织病理特点 ,其中 6例进行透射电镜观察。结果 平均起病年龄 2 5岁 ,全部患者均为下肢无力起病 ,远端受累明显 ,下肢近端、骨盆带肌和上肢肌群也逐渐受累。肌电图示 4例为肌源性损害 ,5例为混合性损害。其病理改变主要为镶边空泡纤维、肌纤维萎缩和肌间质增生 ,肌纤维坏死相对较轻。电镜观察 6例 ,5例可见大量的髓样结构聚集 ,4例发现肌质内细丝包涵体 ,2例有核内包涵体 ,其中 1例可见增大的肌核内染色质完全被细丝取代 ,核膜破裂 ,核内细丝包涵体释出进入肌质内。结论 发生在我国的DMRV与日本报道的病例在临床和病理特点上基本一致。电镜观察结果提示胞质内的细丝包涵体来源于崩解的肌核 ,肌核改变先于肌原纤维的破坏 。
Objective To investigate the clinical and pathological features of distal myopathy with rimmed vacuoles(DMRV). Methods Clinical manifestations and pathological features of biopsied muscle specimens were summarized and analysed retrospectively. Muscle specimens were collected from biceps brachii (3 cases), tibialis anterior (2 cases), quadriceps femoris (1 case)and gastrocnemius (3 cases) respectively. 6 cases were observed by electronic microscope. Results The onset of disease was ranged in age from 15 to 33 years, averaging 25 years. It is more common in women than in men in a ratio of 2∶1. Distal muscle weakness and atrophy of the lower extremities was predominant in early stage. Varied involvement of proximal and trunk muscles, with sparing of the facial, extraocular, bulbar, intercostal and diaphragm muscles was recognized in the advanced stage. The striking and common pathologic finding was the presence of rimmed vacuoles in muscle fibers with little evidence of necrotic or regenerative processes. Electronic microscopic study showed an accumulation of myeloid structure in 5 cases, cytoplasmic inclusion bodies in 4 cases and intranuclear filamentous inclusions in 2 cases. A perforated nuclear envelope and extrusion of filaments in adjacent cytoplasm were found in an enlarged nucleus filled with tubulofilementous inclusion.Conclusion The clinical and pathological findings of DMRV occurred in China is basically similar to those reported by Japanese. Ultrastructural study suggested that sarcoplasmic filamentous inclusions might originate from perforated nuclei with inclusion body, which predicts that the rimmed vacuoles are likely to be the end products of nuclear disintegration and focal myofibrillar degeneration.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2003年第2期138-141,共4页
Chinese Journal of Neurology
